Tay Sachs Disease

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Overview

Tay Sachs is a defective gene in chromosome 15. This defective gene causes the body to not make the protein called Hexossaminidase. Without this protein chemicals called gangliosides build up in nerve cells in the brain, destroying brain brain cells.

Signs and Symptons

  • Muscle weakness
  • slurred speech
  • unsteady gait
  • memory problems
  • tremors

History of tay sachs

In 1881 Warren Tay, a British ophthalmologist, observed a "cherry red spot" in retina of one year-old child with mental and physical retardation later in 1896 Bernard Sachs, an american neurologist, observed extreme swelling of neurons in autopsy tissue from affected children. Tay Sachs was also named after Bernard Sachs (1858-1944).They were both named after this disorder because they both had patient that had Tay Sachs and they discovered it

Management and treatment

There is no cure for Tay Sachs disease, there is some treatments that can help you manage it.

Genetics:

Tay Sachs is recessive which means if both parents are carriers the child has a 25% chance of getting it. There three called Classic, Juvenile Onset, and Late onset.These different type depend on the symptom and when they begin. Tay Sachs is not sex linked it a recessive trait. This disorder is found on the 15 chromosomes.

Distribution:

Tay-Sachs is more common at Eastern Central European. Also people that are Jewish heritage. Ashkenazi Jewish are more common to have Tay Sachs because they stay in a small community and most people carry the recessive trait.

Further Research:

Ctsf. “There Is HOPE in Your HELP!!! MAKE A DONATION.” Cure Tay-Sachs Foundation, www.curetay-sachs.org/.
“Tay-Sachs Disease.” NTSAD - Home, www.ntsad.org/the-diseases/tay-sachs